Oncohematology and Genetics

Clinical genetics and genomic medicine

Salud Borrego López
Salud Borrego López
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla

Laboratory: 205

Salud Borrego López

Volver al programa
  1. Group members
  2. Research areas
  3. Publications

Group: Clinical genetics and genomic medicine

Directory
Group members Clinical genetics and genomic medicine
  • Borrego López, Salud.MD/PhD. Section Head (HUVR).
  • Fernández García, Raquel.PhD in Pharmacy. MD/PhD. Faculty Staff - Pharmacy (HUVR).
  • Luzón Toro, Berta.PhD in Biology. Post-doctoral fellow.
  • Molina Luna, Isabel.Technician.
  • Peláez Nora, M. Yolanda.Senior Laboratory Technician.
  • Ruiz Ferrer, Mª Macarena.PhD in Biology. Post-doctoral fellow.
  • Suárez Martos, Aurosa.Senior Laboratory Technician.
  • Tomás Suárez, Ana María.Senior Laboratory Technician.
  • Torroglosa González, Ana.PhD in Biology. Post-doctoral fellow.
  • Villalba Benito, Leticia.Lda. en Biología. Predoctoral.

Research areas

Brief description using keywords of the current lines of investigation:

Enteric Nervous system alterations. Hirschsprung's disease as a model for polygenic diseases and Intestinal Neuronal Dysplasia.
Keywords: Hirschsprung's disease, RET proto-oncogene, susceptibility factors, complex model of disease, "HSCR Haplotype", susceptibility loci, intestinal neuronal dysplasia.

Thyroid cancer
Keywords: Multiple Endocrine Neoplasia type 2, medullary thyroid cancer, papillary thyroid cancer, sporadic tumors; germinal mutations at RET; modifier factors; molecular and functional characterization.

Genetic Mental Retardation syndromes
Keywords: Mental retardation, cryptic chromosomal anomalies, MLPA, molecular karyotyping, microarrays, SNPs

Spinal Muscular Atrophy
Keywords: SMA; SMN1; SMN2; genotype-phenotype correlation.